Adapting Genetic Counseling Training to the Genomic Era: More an Evolution than a Revolution

Abstract

Genetic counselors, like other healthcare professionals, are continually challenged to keep abreast of up-todate, evidence-based information regarding their practice. In particular, we are tasked with trying to keep pace with technological advancements in genomics. Without a doubt, the content covered in our graduate and continuing education curriculum with regard to genetic screening and testing has significantly changed over time. In 20 years, we have seen maternal serum screening for aneuploidy transition from a single analyte second trimester blood test to a multi-analyte first and/or second trimester test that can include a nuchal translucency measurement to DNA-based non-invasive prenatal screening. We have seen cytogenetic analysis move beyond the identification of aneuploidies and large structural defects to comprehensive chromosomal microarray analyses. Testing for relatively common single gene disorders like Fragile X syndrome, Huntington disease, and cystic fibrosis has changed dramatically. Furthermore, gone are the days of having to wait months for the results of the Sanger sequence analysis of a single gene. Now, next-generation panel tests can provide a plethora of information in just a few short weeks. The introduction of each of these technological advances required adjustments to our genetic counseling curriculum and continuing education programs. But one of the strengths of our profession is that we are trained in fundamental core genetic counseling competencies that can be applied across diverse practice settings and readily adapted to changes in practice brought forth by new technologies. As a result, even in the face of these rather significant changes, the four domains that define the competencies of genetic counselors: genetics expertise and analysis; interpersonal, psychosocial, and counseling skills; education; and professional development and practice (Accreditation Council of Genetic Counseling 2013a, b) have remained largely the same. As new technology is adopted, it is critically important for program directors and practicing professionals to evaluate whether fundamental changes in genetic counselors’ knowledge, skills, and attitudes, and ultimately genetic counseling practice, are required. In this issue Hooker et al. (2013) discuss the significant challenges of integrating genomics into the training of genetic counseling students and practicing professionals. We agree with many of the points made by the authors, however, we assert that these are no more significant than the other challenges we have faced with incorporating new content in the program curriculum. In addition, Hooker et al. discuss that large-scale, clinical genomic sequencing results in a paradigm shift in the practice of medical genetics. We struggle with the term “paradigm shift” given that the definition of a paradigm shift is “a radical change in underlying beliefs or theories,” (Collins English Dictionary 2014). The scale of information provided by genomic sequencing definitely poses challenges in areas such as pre-test informed consent as well as interpretation and disclosure of test results. But do these challenges truly constitute a paradigm shift or are these just the same issues we have faced in the past but on a much larger scale and in a slightly different context? We believe that it is the latter. Anytime new technology is implemented in clinical care, new content must be added to the existing training curriculum and continuing education programs. It may be important to expand specific topics, change the emphasis, and/or present information from a different frame of reference, but the foundation to do so should already be in place. For instance with C. Wicklund (*) Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 676 N. St. Clair, Suite 1280, Chicago, IL 60611, USA e-mail: c-wicklund@northwestern.edu